Variant report

Variant	esv2761749
Chromosome Location	chr12:73787836-73818508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138052673	chr12:73806416-73806417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531634835	chr12:73806470-73806471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73160190	chr12:73806532-73806533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549913678	chr12:73806540-73806541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558448089	chr12:73806546-73806547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576731035	chr12:73806582-73806583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181908604	chr12:73806587-73806588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548848059	chr12:73806613-73806614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555916880	chr12:73806615-73806616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186431518	chr12:73806617-73806618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541531673	chr12:73806622-73806623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149079844	chr12:73806694-73806695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146204051	chr12:73806699-73806700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138893316	chr12:73806737-73806738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142702157	chr12:73806827-73806828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147339641	chr12:73806833-73806834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147980038	chr12:73806882-73806883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71458148	chr12:73806944-73806945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563713383	chr12:73806971-73806972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529366664	chr12:73806972-73806973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1520568	chr12:73807054-73807055	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141702749	chr12:73807105-73807106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535239550	chr12:73807115-73807116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150531229	chr12:73807128-73807129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370330599	chr12:73807150-73807151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372711751	chr12:73807151-73807152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79256185	chr12:73807152-73807153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575633586	chr12:73807163-73807164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535148714	chr12:73807181-73807182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549402331	chr12:73807325-73807326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571842636	chr12:73807329-73807330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541197039	chr12:73807349-73807350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564173415	chr12:73807378-73807379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577859167	chr12:73807379-73807380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61936284	chr12:73807410-73807411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373390058	chr12:73807437-73807438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563627755	chr12:73807502-73807503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529329363	chr12:73807511-73807512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7975033	chr12:73807517-73807518	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559872869	chr12:73807529-73807530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528609392	chr12:73807546-73807547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551950856	chr12:73807573-73807574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571754761	chr12:73807581-73807582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368156970	chr12:73807589-73807590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372450617	chr12:73807591-73807592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397943894	chr12:73807598-73807599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201627784	chr12:73807599-73807600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367559847	chr12:73807605-73807606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2037397	chr12:73807642-73807643	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550882102	chr12:73807648-73807649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73806400-73807800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:73806800-73808200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:73807800-73808000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:73808600-73810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:73815200-73815400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:73815200-73815600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:73815200-73816000	Enhancers	HMEC	breast
8	chr12:73815400-73815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:73815400-73816000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:73815400-73816200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:73815600-73815800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:73815600-73816000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:73815600-73816000	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:73815600-73816200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:73815800-73816000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:73815800-73816000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:73816000-73816200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:73816600-73816800	Enhancers	Pancreatic Islets	Pancreatic Islet

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